Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R123*

KCTD7

136 papers

RefSeq Summary

This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar t...

Pfam Domains

BTB_2aa 53–141UCSCBTB/POZ domain
KCTD_Caa 151–288UCSCKCTD C-terminal domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 7

HGNC Alias Symbols

FLJ32069; EPM3; CLN14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153033.5
p.R123*
c.367C>T
Surrounding Variants
1 paper
NM_153033.5
p.R121H
c.362G>A
1 paper
NM_153033.5
p.R121P
c.362G>C
3 papers
NM_153033.5
p.R121L
c.362G>T
1 paper
NM_153033.5
p.R121C
c.361C>T
1 paper
NM_153033.5
p.A129D
c.386C>A
2 papers
NM_153033.5
p.L116del1
c.346_347delCTC
9 papers
NM_153033.5
p.D115Y
c.343G>T
2 papers
NM_153033.5
p.D115fs
c.343_344fs
1 paper
NM_153033.5
p.Y132delFs
c.395_396delAT
3 papers
NM_153033.5
p.G114E
c.341G>A
1 paper
NM_153033.5
p.G114R
c.340G>A
1 paper
NM_153033.5
p.G114R
c.340G>C
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